Homocystinuria
Introduction
Homocystinuria (HCU) is a rare but potentially serious inherited condition.
It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.
Normally, our bodies break down protein foods like meat and fish into amino acids, which arethe "building blocks" of protein. Any amino acids that aren't needed are usually broken down and removed from the body.
Babies with HCU are unable to fully break down the amino acid methionine, causing a build-up of methionine and a chemical called homocysteine. This can be harmful.
Medically Reviewed by a doctor on 29 Nov 2016
Introduction
Homocystinuria (HCU) is a rare but potentially serious inherited condition where the body can't process the amino acid methionine.
Diagnosinghomocystinuria
At around five days old, babies are now offered newborn blood spot screening to check if they have HCU. This involves pricking your baby's heel to collect drops of blood to test. If HCU is diagnosed
Treatinghomocystinuria
Vitamin B6 (pyridoxine) In some babies, it's possible to control the levels of homocysteine with high doses of vitamin B6 (pyridoxine). If this works, your child will need to take vitamin B6 suppleme
Howhomocystinuria is inherited
The genetic cause (mutation) responsible for HCU is passed on by parents, who usually don't have any symptoms of the condition. The way this mutation is passed on is known as autosomal recessive inhe
Information about your child
If your child has HCU, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for
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